Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000188827 | SCV000242456 | uncertain significance | not provided | 2012-09-14 | criteria provided, single submitter | clinical testing | p.Glu1135Glu (GAA>GAG):c.3405 A>G in exon 16 of the SCN1A gene (NM_001165963.1) The c.3405 A>G nucleotide substitution has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The NHLBI ESP Exome Variant Project did not identify c.3405 A>G in approximately 6300 individuals of European or African American ethnicity, indicating that it is not a common benign variant in these populations. Some in silico models predict that the c.3405 A>G substitution could potentially create a new cryptic splice donor site that may supplant the natural site in exon 16 of the SCN1A gene and lead to abnormal splicing. However, in the absence of RNA/functional and clinical studies, the actual effect of the c.3405 A>G sequence change is unknown. This variant has been observed to be maternally inheritied with confirmed parentage. The variant is found in INFANT-EPI panel(s). |
Invitae | RCV002517008 | SCV003238603 | likely benign | Early infantile epileptic encephalopathy with suppression bursts | 2022-08-31 | criteria provided, single submitter | clinical testing |